Table 2.
Management and outcome of hyperinsulinemic phosphomannomutase 2 deficiency (PMM2‐CDG) patients
| Authors | BS (mmol/l) | Insulin level (pmol/l) | Duration of hypoglycemia (Permanent/transient) | Duration of treatment | Outcome (Death/alive) | PMM2 molecular genetic testing |
|---|---|---|---|---|---|---|
| Arnoux et al13 | 2.7 | 8.3 | Transient | 24 months | Alive | p.24delC/p.P113L |
| Coman et al14 | 0.5 | 27.7 | Permanent | Until the end of life | Died at 3.5 weeks | p.V231 M/p.D148M |
| Enns et al9 | 2.2 | 17.4 | NA | NA | NA | p.L104 V/IVS1‐1 |
| Shanti et al7 case 1 | 2.9 | 33 | Permanent | Ongoing | Alive | p.I132T/p.F207S |
| Shanti et al7 case 2 | 2.6 | 22.6 | Transient | 7 years | Alive | p.F157S/p.F157S |
| Shanti et al7 case 3 | 2.3 | 23.6 | NA | NA | Died at 14 years | p.R141H/p.V231 M |
| Teneiji et al 12 | 1.7 | 12 | Transient | 15 months | Alive | p.R123Q/p.G208A |
Abbreviation: BS, blood sugar.